Head and neck squamous cell carcinoma (HNSCC) is associated with environmental factors, especially tobacco and alcohol consumption. Most of the carcinogens present in tobacco smoke are converted into DNA-reactive metabolites by cytochrome P450 (CYPs) enzymes and detoxification of these substances is performed by glutathione S-transferases (GSTs). It has been suggested that genetic alterations, such as polymorphisms, play an important role in tumorigenesis and HNSCC progression. The aim of this study was to investigate CYP1A1, CYP1A2, CYP2E1, GSTM1, and GSTT1 polymorphisms as risk factors in HNSCC and their association with clinicopathologic data. The patients comprised 153 individuals with HNSCC (cases) and 145 with no current or previous diagnosis of cancer (controls). Genotyping of the single nucleotide polymorphisms (SNPs) of the CYP1A1, CYP1A2, and CYP2E1 genes was performed by PCR-RFLP and the GSTM1 and GSTT1 copy number polymorphisms (CNPs) were analyzed by PCR-multiplex. As expected, a significant difference was detected for tobacco and alcohol consumption between cases and controls (P<0.001). It was observed that the CYP1A2*1D (OR=16.24) variant and GSTM1 null alleles (OR=0.02) confer increased risk of HNSCC development (P<0.001). In addition, head and neck cancer alcohol consumers were more frequently associated with the CYP2E1*5B variant allele than control alcohol users (P<0.0001, OR=190.6). The CYP1A2*1C polymorphism was associated with tumor recurrence (log-rank test, P=0.0161). The CYP2E1*5B and GSTM1 null alleles were significantly associated with advanced clinical stages (T3+T4; P=0.022 and P=0.028, respectively). Overall, the findings suggested that the genetic polymorphisms studied are predictors of risk and are also associated with tumor recurrence, since they are important for determining the parameters associated with tumor progression and poor outcomes in HNSCC.
Morphological identification in the field can be extremely difficult considering fragmentation of species for trade or high similarity between congeneric species. In this context, the shark group belonging to the genus Squatina is composed of three species distributed in the southern part of the western Atlantic. These three species are classified in the IUCN Red List as endangered, and they are currently protected under Brazilian law, which prohibits fishing and trade. Molecular genetic tools are now used for practical taxonomic identification, particularly in cases where morphological observation is prevented, e.g., during fish processing. Consequently, DNA barcoding was used in the present study to track potential crimes against the landing and trade of endangered species along the São Paulo coastline, in particular Squatina guggenheim (n = 75) and S. occulta (n = 5), as well as the Brazilian guitarfish Pseudobatos horkelii (n = 5). DNA barcoding revealed the continuous fishing and trafficking of these protected species, thus giving clear evidence that the current conservation models and methods of monitoring are not working.
1. The tiger shark (Galeocerdo cuvier) is a common widespread coastal-pelagic shark species whose population genetic structure has only recently been the object of genetic studies.2. In this study, the tiger's shark mitochondrial DNA control region was sequenced for a sample of 172 individuals from the western Atlantic and from Australia's east coast in the Pacific Ocean.3. The results show a moderate variation in genetic diversity (h = 0.615 ± 0.038, π = 0.00184 ± 0.00021) with a strong population structure between Atlantic areas (Φ ST = 0.28141, P = 0.00001).4. The maternal lineage has high site fidelity, which paradoxically is coupled with connectivity across open ocean stretches to Fernando de Noronha Archipelago, which is identified as an important hotspot for this species. These results help with the understanding of what drives the displacement of this shark, at intra-and/or inter-ocean basins levels, and can help inform the implementation of future conservation and management measures.5. We recommend that the conservation of genetic diversity should be maintained at a global level and its maintenance should be pursued diligently in all populations of tiger shark. As the Fernando de Noronha region in the western Atlantic appears to contain the largest global genetic diversity of the species, this area should be treated as a marine reserve or ecological refuge for the tiger shark.
Rhizoprionodon lalandii and R. porosus are widely distributed along the Atlantic coast of the Americas, living close to coastal areas and therefore frequently captured by seaboard fisheries. However, morphological identification of species in this genus is very difficult, especially when sharks have their heads and fins removed, making information about fishing, trading, and the evaluation of fishery effects on species conservation very difficult. This study's main objective is to develop molecular tools to identify these species using multiplex polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism techniques. Both techniques result in good low-cost markers and may be very useful in future studies about the exploitation of these species.
Sharks of the genus Rhizoprionodon can be considered some of the most important predators along the trophic coastal marine ecosystems and represent an important economic resource for the small-scale fisheries, especially on the Brazilian coastline. In order to analyze the population structure of the shark Rhizoprionodon lalandii of São Paulo, Southeastern coast of Brazil, levels of genetic diversity were identified by nucleotide sequence analyses of the mitochondrial DNA control region. The results obtained from this study present moderate values of haplotype diversity and low nucleotide diversity. Although the AMOVA tests (Φ ST = 0.08394, P < 0.01) had shown slightly differences among the studied samples, evidence for the occurrence of population structuring was not found, which may be a general feature of sharks living in coastal areas.Tubarões do gênero Rhizoprionodon são considerados predadores de grande importância ao longo da cadeia trófica nos ecossistemas costeiros e marinhos, também representando um importante recurso econômico para a pesca, especialmente no litoral brasileiro. A fim de analisar a estrutura populacional do tubarão Rhizoprionodon lalandii no litoral de São Paulo, sudeste do Brasil, foram identificados os níveis de diversidade genética a partir da análise de sequências nucleotídicas da região controladora do DNA mitocondrial. Os dados obtidos neste estudo apresentam valores moderados de diversidade haplotípica e baixos índices de diversidade nucleotídica. Embora os testes de AMOVA (Φ ST = 0,08394, P < 0,01) tenham revelado uma pequena diferença entre as amostras estudadas, evidências sobre a ocorrência de estruturação populacional não foram encontradas o que pode representar uma característica geral para tubarões vivendo em áreas costeiras.
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